APPROACH TO A PATIENT

WITH CRANIOVERTEBRAL
JUNCTION ANOMALIES

PRESENTER : DR. SRUTHI RAMINDLA

JUNIOR RESIDENT – 3

MODERATOR : DR. SHAFAT IQBAL BHATI

A 25yr male presented to OPD
• C/O headache and neck pain - 10 years
increased since last three months
• No history of head trauma or ear discharge.
• No history of symptoms related to B/B dysfunction.
• No visual complaints or sensory or other neurological deficits.

C/I : Basillar Invagination

CRANIOVERTEBRAL JUNCTION
• The craniovertebral(or craniocervical) junction(CVJ) is a collective
term that refers to the occiput (posterior skull base), atlas, axis, and
supporting ligaments.
• It is a transition zone b/w a mobile cranium & relatively rigid spinal
column.
• Consists of :
 Atlas C1
 Axis C2
 Occiput bone
 OCCIPITAL BONE

The occipital bone encompasses the

foramen magnum and extends from the
clivus anteriorly to the lambdoid suture
posteriorly.
The occipital condyles angle medially and
inferiorly from the posterior to anterior:
this angulation limits the mobility of the
atlanto-occipital joints.
The predominant movements at the
atlanto-occipital joint are flexion and
extension.
 ATLAS

Anterior arch : The upper and lower borders respectively

give attachment to the anterior atlantooccipital membrane
and the anterior atlantoaxial ligament; the former connects
it with the occipital bone above, and the latter with the axis
below.
Posterior arch : The lower border gives attachment to the
posterior atlantoaxial ligament, which connects it with the
axis.
•Lateral masses :
•The superior facets are of large size, oval, concave, and
corresponds to condyles of the occipital bone.
• The inferior articular facets articulate with the axis.
AXIS
The dens, also called the odontoid process, or the peg, is
the most pronounced projecting feature of the axis. The
dens exhibits a slight constriction where it joins the main
body of the vertebra.

On its anterior surface is an oval or nearly circular facet for

articulation with that on the anterior arch of the atlas.
The peg has an articular facet at its front and forms part of a
joint with the anterior arch of the atlas. It is a non-
weight bearing joint.
The alar ligaments, together with the apical ligaments, are
attached from the sloping upper edge of the odontoid peg to
the margins of the foramen magnum.
JOINTS
1. Atlanto occipital joint 2. Atlanto axial joint–
• Upper surfaces of C1 lateral masses • 2 median –front & back of
are cup-like or concave which fit dens (Pivot variety)
into the ball & socket
configuration. • 2 lateral –b/w opposing articular
facets (Plane variety)
• Flexion – extension of head
(“yes”movement) • Axial rotation (“no” movement)
• Lateral flexion of head.
LIGAMENTS

Secondary stabilizing ligaments of

Principal stabilizing CVJ are more elastic & weaker than
ligaments of C1 – the primary ligaments.
• Transverse atlantal ligament • Apical ligament
• Alar ligaments • Anterior & posterior A-O membranes
• Tectorial membrane
• Ligamentum flavum
• ALL & PLL
• Capsular ligaments
 Transverse atlantal ligament
• TAL, is horizontal limb of cruciate ligament. It represents a
fibrocartilagenous surface ventrally, allowing a free gliding motion to
occur over the posterior facet of
the dens.
• TAL effectively limits anterior translation and
flexion of the atlanto‑axial (AA) joint.
ALAR LIGAMENTS
• Alar ligaments are two strong cords that attach to the dorsolateral body of
the dens. These fibers extend laterally and rostrally.
• They are ventral and cranial to the transverse
ligament.
• Alar ligament allows an anterior shift of C1 from 3 to 5 mm.
TECTORIAL LIGAMENT
• It is the rostral extension of the posterior longitudinal ligament of the
vertebral column and is essential for limiting flexion.

• The accessory bands of the ligament passing to the

lateral capsule of the AA joints form the Arnold’s ligament.
APICAL LIGAMENT
• Apical ligament is a small, slender band of fibers containing small amount
of collagen and elastin. It has no mechanical significance.
ANTERIOR and POSTERIOR A-O
MEMBRANE
• Anterior AO is continuous caudally with the anterior A-A ligament &
through it to the ALL of the spinal column
NEURAL STRUCTURES RELATED
• Medulla
• Fourth Ventricle
• Rostral part of Spinal Cord
• Lower Cranial Nerves (ix,x,xi,xii)
• Upper Cervical Nerves (C1,C2,C3) with both rami
• Cerebellum :
Tonsils
Biventral lobules
Lower part of vermis (Nodule, uvula, pyramid)
ETIOLOGICAL CLASSIFICATION OF
CRANIOVERTEBRAL JUNCTION
ANOMALIES
• Congenital Anomalies
A. Malformations of Occipital Bone :
• a. Clivus segmentations
• b. Remnants around the Foramen magnum
• c. Atlas variants
• d. Dens segmentation anomalies.
B. Malformations of Atlas :
a. Assimilation of Atlas
b. Atlantoaxial fusion
c. Aplasia of Atlas arches.
C. Malformations of the Axis :
a. Irregular AtlantoAxial segmentation
b. b. Dens Dysplasias a. Ossiculum terminale persistens b. OsOdontoideum
c. c. Hypoplasia – aplasia
d. d. Segmentation failure of C2\C3
• II. Developmental and Acquired abnormalities craniocervical Junction A.
Abnormalities of Foramen Magnum
• 1. Secondary Basilar Invagination ( Basilar Impression) : Paget’s disease,
Rheumatoid Arthritis, Osteomalacia, Rickets.
• 2. Foraminal stenosis (e.g., Achondroplasia) B. Atlantoaxial instability 1. Errors in
metabolism (e.g., Morquio’s syndrome) 2. Down syndrome
• 3. Infections (e.g., Grisel’s syndrome)
• 4. Inflammatory (e.g., Rheumatoid arthritis)
• 5. Traumatic Occipitoatlantal and atlantoaxial dislocation, Osodointoideum
• 6. Tumors (e.g., Neurofibromatosis, syringomyelia)
• 7. Miscellaneous (e.g., fetal warfarin syndrome, Conradi’s syndrome)
CLINICAL FEATURES
The clinical presentation can vary, and some individuals may be asymptomatic or discover the anomaly
incidentally through radiography.
1. Mechanical Features:
• Neck pain stiffness,Torticollis,Pain in the occiput or shoulders.
• 2. Neurological Features:
• Transient Cord Signs:
• Transient episodes of paresis following trauma.
• Monoparesis, paraparesis, hemiparesis, or quadriparesis.
• Progressive Cord Signs (due to atlanto-axial dislocation and cord compression):
• Weakness.
• Spasticity.
• Ataxia.
• Increased deep tendon reflexes.
• Clonus.
• Loss of proprioception.
• Sphincter disturbances.
• Frank paralysis.
• CEREBELLAR SYMPTOMS :
• Nystagmus, Ataxia, Tremor, dysarthria
• BRAINSTEM SYMPTOMS : dysphagia, nasal regurgitation, change in voice, loss of facial sensation,
sleep apnoea.
• 3. Vascular Features:
• Symptoms due to cerebral and brain stem ischemia from vertebral artery insufficiency.
• Syncopal attacks.
• Vertigo.
• Diplopia (double vision).
• Mental deterioration.
• Seizures.
• 4. Combinations:
• Various combinations of the mentioned features are usually present.
INVESTIGATIONS
• The investigations which are invaluable in the diagnosis of cranio-
vertebral anomalies are
1) Dynamic Xrays Cervical spine
2) CT Craniovertebral junction
3) MRI C-Spine
CRANIOMETRY- LANDMARKS
A- nasion
H
B-posterior pole of hard
A palate
F
G C-anterior arch C1
B C D E
D-odontoid process
E-posterior arch C1
F- opisthion
G- basion
H- tuberculum sellae

A- tip of mastoid process

A B B-occipital condyle
C E
C-odontoid process
D
D-axis body
E-lateral mass of atlas
Craniometric Assessment:
• Chamberlain’s line (Palato occipital line) – it is the line connecting the
posterior surface of hard palate to the inferiormost surface of
theOpisthion. Normally the tip of odontoid should lie below this line.
• Mc Rae’s line – it is the foramen magnum line connecting the Basion
to Opisthion. The normal foramen magnum diameter is 40 mm. The
effective canal diameter less than 20 mm implies foraminal stenosis
with severe cervico medullary compression.
• Mc Gregor’s line (Palato suboccipital line) – it is the line connecting
the posterior most surface of hard palate to the internal surface of
the Occiput. The tip of the Odontoid process should lie either below
this line.
• Wackenheim’s Clivus canal line - it is the tangential line along the
clivus & by extrapolating it inferiorly downwards. Normally the
Odontoid process lies below or does not cross more than 2.5mm
above this line.
• Welcher’s Basal angle – it is the angle formed between the Nasion
tuberculum line and the tuberculum basion line. Normally it is around
130 degrees. More than 130 degrees implies Platybasia
CRANIOVERTEBRAL JUNCTION
ANOMALIES
CHIARI MALFORMATIONS :
Chiari described four types of malformations with cerebellar tonsillar
displacement.
In current usage, the terms Arnold-Chiari and Chiari malformation are
often used interchangeably for all four types.
Classic CM-I is a congenital mesodermal malformation resulting in a
hypoplastic posterior fossa, compressing neural tissue and forcing the
cerebellar tonsils down through the foramen magnum
Some patients have a small posterior fossa with the conical
configuration typical of classic CM-I but do not have tonsillar
herniation; this has been called Chiari 0 malformation
CLINICAL PRESENTATION

Chiari Malformation Type I (CM-I):

• Can be asymptomatic or present symptoms in adolescence or early adulthood.
• About 25% of patients develop symptoms after minor head or neck injuries.
• Common symptoms include:
• Occipital headache
• Neck pain
• Visual disturbances
• Neuro-otological complaints
• Cranial nerve dysfunction
• Cognitive difficulties
• Sleep apnea
• Associated syringomyelia is common.
• Clinical severity correlates with the extent of tonsillar herniation.
• Severe cases may lead to brainstem dysfunction
Associated Anomalies
• Hydrocephalus
• basilar impression
• occipitalization of the atlas
• retroflexed odontoid processes
• elongated styloid processes
• C1-level spina bifida occulta,
Chiari headache
• Suboccipital pressing head pain.
• usually continuous, waxing and waning but not episodic.
• radiating at times behind the eyes or to the vertex.
• The headache is almost never hemicranial
• It is often exaggerated more by bearing down with bowel movements,
with laughter, crying, or than with cough or sneeze.
CNS EXAMINATION :
The most typical finding is a vestibular-like dysequilibrium and difficulty
in tandem standing and walking.
Nystagmus is difficult to appreciate even with Fresnel lens examination.
Source : Bradley’s Neurology in Clinical Practice
Source : Bradley’s Neurology in Clinical Practice
Dandy-Walker Syndrome

• Dandy-Walker syndrome results from the failure of development of

the midline portion of the cerebellum.
• A cyst-like structure associated with a greatly dilated fourth ventricle,
expanding the midline is often seen.
• The malformation typically causes the occipital bone to bulge
posteriorly and displaces the tentorium and torcula upward.
• The cerebellar vermis is aplastic, and the corpus callosum may be
deficient or absent.
• There is usually dilation of the aqueduct as well as the third and
lateral ventricles.
SYRINGOBULBIA
• The central canal of the spinal cord is normally widely open during
embryonic life and becomes atretic after birth. It is occasionally
patent in the adult.
• Hydromyelia: Abnormal dilation of the central spinal canal with
excess cerebrospinal fluid in the ependymal lining.
• Syringomyelia: Formation of a cystic cavity or syrinx when fluid
dissects into surrounding white matter.
• Syrinx Location: Cavity can be in the spinal cord (syringomyelia) or
brainstem (syringobulbia).
• Clinical Presentation:
• Prototypical presentation involves:
• Lower motor neuron signs at the lesion level.
• Dissociated suspended sensory loss.
• Spinal long-tract dysfunction below the lesion.
• Symptoms:
Pain is a prominent symptom:
• Neck ache, headache, back pain, radicular pain.
• Areas of segmental dysesthesia.
• Painful dysesthesias likely at or adjacent to the caudal extent of the
syrinx cavity.
• Segmental Signs and Trophic Changes:
• Trophic changes may correspond to segmental loss of pain sensation.
• Neuropathic monoarthritis (Charcot joint).
• Most syringes are in the cervical spinal cord.
Cranioynostosis
• Craniosynostosis is among the most common and relatively benign abnormalities.
• Prevalence and Impact:
• Affects approximately 1 in 2500 live births.
• Considered one of the most common and relatively benign abnormalities.
• Causes:
• Caused by premature closure of one or more sutures of the skull bones.
• Associations with Syndromes:
• About 20% of cases associated with syndromes affecting other body parts.
• Common syndromes include Crouzon and Apert syndromes.
OCCIPITALIZATION OF ATLAS
• Definition:
• Congenital fusion of the atlas to the occiput.
• Partial or complete fusion observed.
• Variations:
• Anterior arch of the atlas may fuse to the lower end of the clivus.
• Posterior arch of the atlas may fuse to the occiput.
• Symptom Onset:
• Typically asymptomatic until early adulthood.
• May become symptomatic sooner after trauma.
• Clinical Implications:
• Unilateral occipitalization of the atlas can cause torticollis in young children.
• Loss of movement between the occiput and atlas increases stresses at the atlantoaxial joint.
• Degeneration and Dislocation:
• Predisposes the atlantoaxial joint to gradual degeneration.
• Increased risk of traumatic dislocation.
• Associated Anomalies:
• Patients may have associated anomalies such as:
• Klippel-Feil anomaly.
• Basilar impression.
• Chiari malformation.
BASILAR IMPRESSION
• Definition:
• Basilar impression or invagination involves caudal settling of the foramen magnum onto the cervical spine.
• Often includes encroachment of the odontoid process into the foramen magnum, leading to brainstem and/or upper cervical
spinal cord compression.
• Diagnosis:
• Radiological lines (Chamberlain, McGregor, McRae, digastric) and measurements used for diagnosis.
• Variants:
• Congenital basilar impression may occur independently or be associated with conditions like achondroplasia, occipital
dysplasia, Down syndrome, Hurler syndrome, Klippel-Feil anomaly, and cleidocranial dysplasia.
• Familial instances reported.
• Neuraxis Anomalies:
• Often accompanied by neuraxis anomalies, including Chiari I or II malformation and syringomyelia.
• Symptoms and Complications:
• Can cause compression of the brainstem, cerebellum, or vertebral artery, leading to vertebrobasilar ischemia.
• May be asymptomatic, especially when mild and not associated with other anomalies.
• Related Anomalies:
• Platybasia, or flattening of the skull, may accompany basilar impression.
Atlantoaxial Subluxation
• Atlantoaxial Subluxation:
• Disruption of the atlantoaxial joint integrity can lead to dislocation.
• Horizontal subluxation involves anterior movement of C1 to C2.
• Congenital:
• Os odontoideum (odontoid fails to fuse with the body of the axis).
• Hypoplastic dens with connective tissue dysplasias.
• Other anomalies of C2 (bifid dens, tripartite dens with os apicale, agenesis of all or part of dens).
• Laxity of transverse atlantal ligament (e.g., Down syndrome).
• Acquired:
• Traumatic (acute or chronic un-united dens fracture).
• Infectious.
• Neoplastic (e.g., neurofibroma).
• Arthritic (e.g., rheumatoid arthritis, ankylosing spondylitis, renal amyloidosis).
• Bone disease (e.g., vitamin D-resistant rickets, basilar invagination).
• Measurement and Assessment:
• ADI (atlantodental interval): Measures separation between the dens and
anterior arch of C1 on flexion, extension, and neutral radiographs.
• PADI (posterior atlantodental interval): Represents "space available for the
cord," a more accurate reflection of neurological compromise risk.
• Patients at risk of spinal cord compression if the spinal canal diameter at the
dens level is less than 14 mm.
• Imaging and Diagnosis:
• MRI or CT myelography provides the best visualization of the relationship
between the cord and subluxing bones.
• Rheumatoid Arthritis (RA) Association:
• Commonly encountered in RA.
• Three cardinal cervical spine manifestations in RA:
1. AA subluxation
2. subaxial spondylolisthesis
3. retro-odontoid pannus.

• Surgical fusion of C1 and C2 is a treatment option, correcting

subluxation and promoting pannus resorption.
• Rapidly progressive myelopathy may require direct pannus resection,
usually via a transoral approach.
Klippel-Feil syndrome
Congenital synostosis of cervical vertebrae.
• Appearance: Short necks, low hairlines, and limited cervical motion.
• Etiology and Development:
• Congenital Cause: Failure of normal segmentation of cervical vertebrae between the third and eighth
weeks of fetal development.
• Occurrence: Most cases are isolated and idiopathic
Clinical Features:
• Physical Characteristics:
• Short necks.
• Low hairlines.
• Restricted cervical motion.
• Complications:
• Direct compression of nerve roots, cervical spinal cord, or vertebral/spinal artery.
• Predisposition to thoracic outlet syndrome with cervical ribs.
• Common neck pain.
• Hearing loss, a frequent cranial nerve symptom.
• Radiographic evidence of spontaneously fused cervical vertebrae.
• Associated Abnormalities:
• Skeletal Development:
• Congenital scoliosis.
• Sprengel deformity with unilateral scapular elevation.
• Neurological Complications:
• Hydrocephalus.
• Syringomyelia.
• Syringobulbia.

• Klippel-Feil syndrome is most likely to cause mirror movements, particularly in the

hands.
MANAGEMENT
1.Medical Management:
1. Symptomatic treatment for pain, discomfort, or associated neurological symptoms.
2. Physical therapy to improve mobility and strengthen supporting structures.
2.Surgical Intervention:
1. Indications: Surgical intervention is often considered when there is:
1. Severe compression of neural structures.
2. Progressive neurological deficits.
3. Intractable pain.
2. Surgical Options:
1. Decompression of compressed structures.
2. Stabilization of the affected joints.
3. Correction of deformities.
3. Surgical Techniques:
1. Transoral approach for decompression.
2. Posterior approaches for stabilization.
3. Fusion procedures to stabilize the CVJ.
1.Specific Management Approaches for Different CVJ Anomalies:
1. Chiari Malformation:
1. Surgical decompression to relieve pressure on the cerebellum and upper spinal cord.
2. Addressing associated syringomyelia if present.
2. Atlantoaxial Subluxation:
1. Stabilization and fusion procedures.
2. Addressing the underlying cause, such as rheumatoid arthritis.
3. Basilar Impression:
1. Decompression of the foramen magnum.
2. Stabilization and fusion procedures.
3. Treatment of associated anomalies.
4. Klippel-Feil Anomaly:
1. Symptomatic management for associated conditions.
2. Surgical intervention for severe cases with neurological compromise.